Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project

由 Tobochnik, Steven, Fahlstrom, Robyn, Shain, Catherine, Winawer, Melodie R.
發表在 Neurology (2017)

Polymicrogyria-associated epilepsy: a multi-center phenotypic study from the Epilepsy Phenome/Genome Project

由 Shain, Catherine, Ramgopal, Sriram, Fallil, Zianka, Parulkar, Isha, Alongi, Richard, Knowlton, Robert, Poduri, Annapurna
出版 2013

Phenotypic and Imaging Features of FLNA-Negative Patients With Bilateral Periventricular Nodular Heterotopia and Epilepsy

由 Fallil, Zianka, Pardoe, Heath, Bachman, Robert, Cunningham, Benjamin, Parulkar, Isha, Shain, Catherine, Poduri, Annapurna, Knowlton, Robert, Kuzniecky, Ruben
發表在 Epilepsy Behav (2015)

Genetic diagnoses in epilepsy: the impact of dynamic exome analysis in a pediatric cohort

由 Rochtus, Anne, Olson, Heather E., Smith, Lacey, Keith, Louisa G., El Achkar, Christelle, Taylor, Alan, Mahida, Sonal, Park, Meredith, Kelly, McKenna, Shain, Catherine, Rockowitz, Shira, Sheidley, Beth Rosen, Poduri, Annapurna
發表在 Epilepsia (2020)

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression

由 Olson, Heather E., Kelly, McKenna, LaCoursiere, Christopher M., Pinsky, Rebecca, Tambunan, Dimira, Shain, Catherine, Ramgopal, Sriram, Takeoka, Masanori, Libenson, Mark H., Julich, Kristina, Loddenkemper, Tobias, Marsh, Eric D., Segal, Devorah, Koh, Susan, Salman, Michael S., Paciorkowski, Alex R., Yang, Edward, Bergin, Ann M., Sheidley, Beth Rosen, Poduri, Annapurna
發表在 Ann Neurol (2017)

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy

由 Winawer, Melodie R., Griffin, Nicole G., Samanamud, Jorge, Baugh, Evan H., Rathakrishnan, Dinesh, Ramalingam, Senthilmurugan, Zagzag, David, Schevon, Catherine A., Dugan, Patricia, Hegde, Manu, Sheth, Sameer A., McKhann, Guy M., Doyle, Werner K., Grant, Gerald A., Porter, Brenda E., Mikati, Mohamad A., Muh, Carrie R., Malone, Colin D., Bergin, Ann Marie R., Peters, Jurriaan M., McBrian, Danielle K., Pack, Alison M., Akman, Cigdem I., LaCoursiere, Christopher M., Keever, Katherine M., Madsen, Joseph R., Yang, Edward, Lidov, Hart G.W., Shain, Catherine, Allen, Andrew S., Canoll, Peter, Crino, Peter B., Poduri, Annapurna H., Heinzen, Erin L.
發表在 Ann Neurol (2018)

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

由 Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Humberson, Jennifer B., Robak, Laurie, Scott, Daryl A., Sutton, Vernon R., Skraban, Cara M., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Klee, Eric W., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Dewan, Tammie, Coban Akdemir, Zeynep H., Telegrafi, Aida, Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I., Pichurin, Pavel N., Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Redon, Richard, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Goldstein, David B., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.
發表在 Am J Hum Genet (2019)